Canonical Allele Identifier: CA373084990
Gene: MTAP HGNC NCBI

Linked Data

dbSNP Id: rs1395236232
gnomAD v2: 9-21816772-G-A
gnomAD v3: 9-21816773-G-A
gnomAD v4: 9-21816773-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21816773G>A , CM000671.2:g.21816773G>A GRCh38
NC_000009.11:g.21816772G>A , CM000671.1:g.21816772G>A GRCh37
NC_000009.10:g.21806772G>A NCBI36
NG_032650.1:g.19138G>A
NG_032650.2:g.19138G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.179+1G>A ENSP00000385916.2:n.179+1G>A
ENST00000644715.2:c.179+1G>A MANE Select ENSP00000494373.1:n.179+1G>A
ENST00000380172.8:c.179+1G>A ENSP00000369519.4:n.179+1G>A
ENST00000404796.2:c.179+1G>A ENSP00000385916.2:n.179+1G>A
ENST00000419385.5:c.*51+1G>A ENSP00000393507.1:n.*51+1G>A
ENST00000427788.2:n.565+1G>A
ENST00000460874.6:c.230+1G>A ENSP00000461932.1:n.230+1G>A
ENST00000579422.5:n.567+1G>A
ENST00000580718.1:c.179+1G>A ENSP00000464616.1:n.179+1G>A
ENST00000580900.5:c.179+1G>A ENSP00000463424.1:n.179+1G>A
NM_002451.3:c.179+1G>A NP_002442.2:n.179+1G>A
NM_002451.4:c.179+1G>A MANE Select NP_002442.2:n.179+1G>A
NM_001396040.1:c.230+1G>A NP_001382969.1:n.230+1G>A
NM_001396041.1:c.179+1G>A NP_001382970.1:n.179+1G>A
NM_001396042.1:c.179+1G>A NP_001382971.1:n.179+1G>A
NM_001396043.1:c.179+1G>A NP_001382972.1:n.179+1G>A
NM_001396044.1:c.179+1G>A NP_001382973.1:n.179+1G>A
NM_001396045.1:c.179+1G>A NP_001382974.1:n.179+1G>A
NR_173242.1:n.292+1G>A